| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.11758471C>T | CA212672 | GATA4 | c.1325C>T (p.Ala442Val) c.1328C>T (p.Ala443Val) n.770C>T c.707C>T (p.Ala236Val) c.1322C>T (p.Ala441Val) c.581C>T (p.Ala194Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758471C>G | CA4630914 | GATA4 | c.1325C>G (p.Ala442Gly) c.1328C>G (p.Ala443Gly) n.770C>G c.707C>G (p.Ala236Gly) c.1322C>G (p.Ala441Gly) c.581C>G (p.Ala194Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758471C= | CA1764074420 | GATA4 | c.1325C= (p.Ala442=) c.1328C= (p.Ala443=) n.770C= c.707C= (p.Ala236=) c.1322C= (p.Ala441=) c.581C= (p.Ala194=) | dbSNP |